Revista Cubana de Pediatría
versão On-line ISSN 1561-3119
MORALES PERALTA, Estela. Pertinence of the lab techniques for the diagnosis of genetic diseases . Rev Cubana Pediatr [online]. 2008, vol.80, n.2, pp. 0-0. ISSN 1561-3119.
The genetic tests are lab methods that allow to identify protein alterations, certain metabolites, chromosomes or nucleic acids connected with diseases of genetic cause. They are advanced techniques that reveal the molecular bases of these affections. However, they are not the reference method for the diagnosis, since they do not always present total sensitivity and specificity. Moreover, there is a group of genetic diseases, whose diagnosis may be confirmed on the basis of complementary studies that are not precisely genetic tests; whereas other require only traditional clinical criteria to be confirmed. The diagnostic process is the clinical method, a variant of the scientific experimental method, a human activity in which medical reasoning is essential.
Palavras-chave : Genetic test; genetic heterogeneity; penetrance; mutation; diagnosis; clinical method.